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Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila

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Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers

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Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2

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Additional file 3 of Congenital disorders of glycosylation: narration of a story through its patents

Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054321

Additional file 5 of Congenital disorders of glycosylation: narration of a story through its patents

Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054330

Additional file 2 of Congenital disorders of glycosylation: narration of a story through its patents

Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054318

Additional file 1 of Congenital disorders of glycosylation: narration of a story through its patents

Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054312

Additional file 4 of Congenital disorders of glycosylation: narration of a story through its patents

Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054324

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in DrosophilaPreprint

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DHRSX : revisiting dolichol synthesis

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Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation

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Pakari, K. (2026) · heiDOK (Heidelberg University) · doi:10.11588/heidok.00037470

A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2

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